Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report

BMC Gastroenterology
Tadahiro YanagiKen Yamamoto

Abstract

Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia. A Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent alloge...Continue Reading

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Citations

Oct 30, 2016·Innate Immunity·Celia Escudero-HernándezEduardo Arranz
Oct 19, 2017·Journal of Pediatric Gastroenterology and Nutrition·Moran Y NunbergDror S Shouval
Sep 20, 2018·European Journal of Clinical Investigation·Cristina Alonso-MontesIsabel Rodríguez

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Methods Mentioned

BETA
PCR
flow cytometry
exome sequencing

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